rs80357979

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs80357979(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091565

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357979
dbSNP (classic)	rs80357979
ClinGen	rs80357979
ebi	rs80357979
HLI	rs80357979
Exac	rs80357979
Gnomad	rs80357979
Varsome	rs80357979
LitVar	rs80357979
Map	rs80357979
PheGenI	rs80357979
Biobank	rs80357979
1000 genomes	rs80357979
hgdp	rs80357979
ensembl	rs80357979
geneview	rs80357979
scholar	rs80357979
google	rs80357979
pharmgkb	rs80357979
gwascentral	rs80357979
openSNP	rs80357979
23andMe	rs80357979
SNPshot	rs80357979
SNPdbe	rs80357979
MSV3d	rs80357979
GWAS Ctlg	rs80357979

Max Magnitude

6

rs80357979, also known as 4085delA, c.3966_3966delA and p.Lys1322Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357979(-;-)
Alt	rs80357979(-;-)
Reference	Rs80357979(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243582delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048392.2, RCV000112220.3,